chr10:96070375:A>G Detail (hg19) (PLCE1)

Information

Genome

Assembly Position
hg19 chr10:96,070,375-96,070,375
hg38 chr10:94,310,618-94,310,618 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001288989.1:c.6003+1919A>G
NM_016341.3:c.6003+1919A>G
NM_001165979.2:c.4977+1919A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.221
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 608414 OMIM
HGNC 17175 HGNC
Ensembl ENSG00000138193 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40247374 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.124 Malignant neoplasm of stomach A notable signal was rs2274223, a nonsynonymous SNP located in PLCE1, for gastri... BeFree 20729852 Detail
0.122 Stomach Neoplasms [A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and ... GAD 20729852 Detail
0.128 Malignant neoplasm of esophagus A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and e... GWASCAT 20729852 Detail
Annotation

Annotations

DescrptionSourceLinks
A notable signal was rs2274223, a nonsynonymous SNP located in PLCE1, for gastric cancer (P = 8.40 x... DisGeNET Detail
[A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous ... DisGeNET Detail
A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous c... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3781264 dbSNP
Genome
hg19
Position
chr10:96,070,375-96,070,375
Variant Type
snv
Reference Allele
A
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs3781264
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2206
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3698
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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